Claire O'Leary, Gabriella Forte, Nadia L Mitchell, Amir Saam Youshani, Adam Dyer, Martin P Wellby, Katharina N Russell, Samantha J Murray, Nelly Jolinon, Simon A Jones, Kevin Stacey, Daniel M Davis, Els Henckaerts, David N Palmer, Ian Kamaly-Asl, Brian W Bigger
BACKGROUND: Mucopolysaccharidosis IIIC (MPSIIIC) is one of four Sanfilippo diseases sharing clinical symptoms of severe cognitive decline and shortened lifespan. The missing enzyme, heparan sulfate acetyl-CoA: α-glucosaminide-N-acetyltransferase (HGSNAT), is bound to the lysosomal membrane, therefore cannot cross the blood-brain barrier or diffuse between cells. We previously demonstrated disease correction in MPSIIIC mice using an Adeno-Associated Vector (AAV) delivering HGSNAT via intraparenchymal brain injections using an AAV2 derived AAV-truetype (AAV-TT) serotype with improved distribution over AAV9...
July 5, 2023: Journal of Translational Medicine